A14V (p.Ala14Val) variant of IL6R (P08887)
A14V (p.Ala14Val) in IL6R (P08887) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- gnomAD 1-154405670-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.06
- CADD 17.20
- PolyPhen-2 0.18
- SIFT 0.35
- Population evidence available
- Structural context available
- Literature evidence available